Generalised epilepsy with febrile seizures plus (GEFS+)

Diseases,

Genetics:

Autosomal dominant, familial
Na+:

  • SCN1A chr. 2q24. Alpha 1 subunit
  • SCN1B chr. 19q13.1, Beta 1 subunit (incomplete penetrance)

GABA:

  • GABRG2 chr. 5q31, Gamma2 subunit (incomplete penetrance)

Clinical features:

Febrile seizures >6 y.o. or Generalised seizures without fever:
GTCS, myoclonic, absence & atonic seizures

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